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Gejala Leukokoria
Gejala Leukokoria
Causes of Leukocoria
DIFFERENTIAL DIAGNOSIS OF LEUKOCORIA
Cataract Retinoblastoma Toxocariasis Coats disease ROP PHPV Retinal detachment Coloboma Retinal dysplasia Norries disease
Developmental Cataracts
Nontraumatic unilateral cataracts first detected after 6 months of age also present special concerns.Usually, the precise age of onset is not known. In some cases, particularly those associated with thinning of the posterior lens capsule (posterior lenticonus or lentiglobus), the duration of significant visual deprivation may have been relatively brief. A history of recent-onset strabismus or leukocoria, preservation of good alignment with central steady fixation (even on a light), family photographs documenting symmetrical red fundus reflexes, or pediatrician's records of red reflex observation can help to establish a good visual prognosis.
Retinoblastoma
Retinoblastoma is the most common intraocular tumor of childhood, accounting for 1% of childhood cancer deaths in the United States and 5% of blindness in children. The incidence is 1 in 15,000 to 1 in 20,000 live births. Overall mortality from retinoblastoma decreased from 95% a century ago. With modern diagnostic and therapeutic advances, the mortality rate from metastatic or recurrent retinoblastoma has been as low as 5%.
RETINOBLASTOMA
CLINICAL MANIFESTATIONS Leukocoria (60%) Strabismus (20%)
OTHER- Uveitis, Orbital cellulitis, Hyphaema, Heterochromia, Glaucoma, Bupthalmos
RETINOBLASTOMA
Retinoblastoma
The disease is bilateral in approximately 30% of cases. The average age at diagnosis is 18 months and 90% of patients are diagnosed before the age of 3 years. Less than 10% of retinoblastoma suffers have a family history of the disorder, 90% of cases are sporadic. Of the sporadic cases, the responsible mutation is in a germ cell in 25% of cases and in a somatic cell in 75% of cases
GENETICS
Retinoblastoma gene is a recessive oncogene of 180,000 kilobases. Located chromosome- 13q14 Knudson two hit hypothesis:Germinal cells have one defective and one normal RB gene. A somatic mutation results in loss of the normal RB gene and hence retinoblastoma develops (somatic mutations occur frequently enough in the developing retina, therefore lesions usually affect both eyes)
In addition, the first child of a parent who had had a unilateral retinoblastoma has a 4% chance of developing the disease
PATHOLOGY
Arise in primitive photoreceptor cells.Characteristic histology: Retinoblastomas are composed of poorly differentiated neuroblastic cells with scanty cytoplasm and prominent basophilic nuclei. The tumour proliferates rapidly, with a tendency to outgrow its blood supply and undergo spontaneous necrosis. Necrotic tumour being eosinophilic stain pink. Characteristic Flexner-Wintersteiner rosettes represent an attempt at retinal differentiation. Histologically, a ring of cuboidal cells is seen surrounding a central lumen. Cuboidal tumour cells with basally oriented nuclei arranged around a central lumen. Calcification is another feature of retinoblastomas, usually occurring in necrotic areas. Calcium stains with H&E. It is worth identifying calcium in suspect eyes by ultrasound, or CT scan to differentiate
retinoblastomas from other tumours.
PATHOLOGY
Retinoblastoma
MANAGEMENT
EMPIRICAL GENETIC COUNSELLING ENUCLEATION unilateral, poor visual prognosis PLAQUE 4-12mm +/- vitreous seeding EXTERNAL BEAM >12mm, multiple foci, only eye LASER consider- indirect, xenon arc cryotherapy if <2dd in size CHEMOTHERAPY, if intracranial extension
Non-Retinoblastoma Malignancies
Unfortunately, children who have genetic retinoblastoma and survive their primary intraocular cancer have a substantially increased risk of death from one or more nonretinoblastoma malignancies over the course of their lifetimes, up to 35% of children who have had a bliateral retinoblastoma and external beam radiation therapy will develop a second cancer by age 25 years
Toxoplasmosis
Toxoplasmosis gondii is an obligate intracellular protozoa causing up to 50% of cases of posterior uveitis. Ocular infection is characterised by focal necrotising retinochoroiditis with vitritis.In congenital infection the eye may also be affected by cataract, microphthalmos, and optic atrophy
Congenital Toxoplasmosis
Highest transmission occurs in the IIIrd trimester 90% of congenital infections have no clinical signs Earlier infection occurs in pregnancy - worse potential outcome Triad:- convulsions, cerebral calcification and chorioretinitis Eye - chorioretinitis, cataracts, microphthalmos, panuveitis, optic atrophy
Investigation of Toxoplasmosis
ELISA IgM in neonates, rising IgG in adults (although not that helpful in adults). Fluorescein angiography (hypofluorescence in the early stages and then progressive leakage). Indocyanine angiography - multiple small dark spots may be seen around the visible lesions implying the affected retina is greater than apparent initially. This sign may be useful in assessing the effect of treatment.
Ocular toxocariasis
Ocular toxocariasis is a unilateral disorder that presents as strabismus, leukocoria or decreased vision. Retinal damage is the result of the host's inflammatory response to the single infection nematode, which must usually be dead before the uveitis can develop. The posterior uveitis may be of severe intensity.
Norrie disease
Norrie disease, or the progressive oculoacousticocerebral degeneration of Norrie, is a rare, X-linked recessive heritable disorder characterized by bilateral leukocoria caused by retinal detachment. Affected boys classically have a triad of blindness, deafness, and mental retardation. Apparent at birth or in early infancy, the ocular findings usually progress to phthisis bulbi. An identical disorder in a Maltese kindred is called Episkopi blindness.
Retinal dysplasia
Retinal dysplasia and PHPV are characteristic ocular findings in trisomy 13; in fact, trisomy 13 was called retinal dysplasia before the chromosomal defect was identified. The multitude of systemic and ocular findings found in patients with trisomy 13 may include bilateral leukocoria. Rarely, retinal dysplasia occurs unilaterally in the congenitally malformed eyes of otherwise healthy persons.
COLOBOMA
OPTIC DISC COLOBOMA Due to failure of closure of foetal fissure inferiorly May be isolated disc or associated chorioretinal coloboma ISOLATED DISC COLOBOMA Rare, Usually sporadic, some AD Can be bilateral Visual acuity varies from normal to NPL. Associated- optic disc pit, hyaloid artery remnant, myopia, posterior lenticonus,transphenoidal encephalocoele, cardiac defects, VII palsy RETINOCHOROIDAL COLOBOMA ASOCIATIONS Coloboma of iris, aniridia, PHPV, microphthalmos Associated CVS, CNS and ear malformations
CHARGE (For diagnosis at least 4 of the highlighted abnormalities are required). Colobomas, Heart defects, Choanal Atresia,
CHARGE !
Retarded growth,
Genital abnormalities, Ear abnormalities CHARGE is also associated with facial palsy, micrognathia, cleft palate, pharyngeal incompetence, tracheo-oesophageal fistula, renal and cardiac abnormalities. Note many other syndromes have colobomata.